Fxn^tm2Mkn
Targeted Allele Detail

Summary

• Symbol: Fxn^tm2Mkn
• Name: frataxin; targeted mutation 2, Michel Koenig
• MGI ID: MGI:2177176
• Synonyms: Frda^L3
• Gene: Fxn Location: Chr19:24238817-24257969 bp, - strand Genetic Position: Chr19, 19.39 cM, cytoband C1
• Alliance: Fxn^tm2Mkn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:75420
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP-flanked neomycin resistance cassette was inserted 5' to exon 4 and a single loxP site was inserted 3' to exon 4. (J:75420)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Fxn Mutation: 40 strains or lines available

References

• Original: J:75420 Puccio H, et al., Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet. 2001 Feb;27(2):181-6
• All: 25 reference(s)